Short Description

NGS genetic DNA test detecets for variant and mutation detection in ACADSB gene for 2-methylbutyrylglycinuria

PreTest Information

Clinical History of Patient who is going for ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic DNA Test A Genetic Counselling session to draw a pedigree chart of family members affected with 2-methylbutyrylglycinuria

Detail Description

ACADSB Gene 2-methylbutyrylglycinuria NGS Genetic DNA Test

ACADSB gene 2-methylbutyrylglycinuria is a rare genetic disorder that affects the body's ability to break down certain amino acids. It is caused by a mutation in the ACADSB gene, which provides instructions to make an enzyme called short-chain acyl-CoA dehydrogenase. This enzyme is responsible for breaking down a specific group of amino acids known as branched-chain amino acids (BCAAs) in the body.

When there is a mutation in the ACADSB gene, the enzyme is not produced correctly or is produced in an inactive form, leading to the buildup of BCAAs in the body. This buildup can cause a range of symptoms, including developmental delay, seizures, muscle weakness, and intellectual disability. In some cases, the condition may be fatal.

Symptoms of ACADSB Gene 2-methylbutyrylglycinuria

The symptoms of ACADSB gene 2-methylbutyrylglycinuria can vary widely from person to person. Some people may have no symptoms at all, while others may experience severe symptoms that can be life-threatening. Some of the most common symptoms of the condition include:

• Developmental delay
• Seizures
• Muscle weakness
• Intellectual disability
• Poor feeding
• Fatigue
• Failure to thrive

Diagnosis of ACADSB Gene 2-methylbutyrylglycinuria

Diagnosing ACADSB gene 2-methylbutyrylglycinuria typically involves a combination of clinical evaluation, biochemical testing, and genetic testing. A doctor may suspect the condition based on a patient's symptoms and medical history, as well as the results of blood and urine tests that show high levels of BCAAs.

Genetic testing is the most definitive way to diagnose the condition. This typically involves a DNA test to look for mutations in the ACADSB gene. Next-generation sequencing (NGS) is a powerful genetic testing technology that can identify mutations in multiple genes simultaneously, making it a useful tool for diagnosing rare genetic disorders like ACADSB gene 2-methylbutyrylglycinuria.

NGS Genetic DNA Test for ACADSB Gene 2-methylbutyrylglycinuria

The NGS genetic DNA test for ACADSB gene 2-methylbutyrylglycinuria is a highly sensitive and specific test that can detect mutations in the ACADSB gene with a high degree of accuracy. This test involves sequencing the DNA of the patient and comparing it to a reference sequence to identify any mutations or variations that may be present.

The cost of the NGS genetic DNA test for ACADSB gene 2-methylbutyrylglycinuria in India is approximately INR 20,000. This cost may vary depending on the specific testing facility and the scope of the test.

Conclusion

ACADSB gene 2-methylbutyrylglycinuria is a rare genetic disorder that can cause a range of symptoms, from developmental delay and seizures to muscle weakness and intellectual disability. Diagnosing the condition typically involves a combination of clinical evaluation, biochemical testing, and genetic testing, including the NGS genetic DNA test for the ACADSB gene. If you suspect that you or a loved one may have ACADSB gene 2-methylbutyrylglycinuria, it is important to speak with a qualified medical professional to explore your testing and treatment options.

At DNA Labs India, we offer a range of genetic testing services, including the NGS genetic DNA test for ACADSB gene 2-methylbutyrylglycinuria. Contact us today to learn more about our services and how we can help you get the answers you need.